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rs1064793917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AGTTCCA) 4.1 Hereditary angioedema
(AGTTCCA;AGTTCCA) 0 common/normal
(TCCAAGT;TCCAAGT) 0 common in clinvar


Make rs1064793917(-;-)
Chromosome11
Position57611856
GeneSERPING1
is asnp
is mentioned by
dbSNPrs1064793917
dbSNP (classic)rs1064793917
ClinGenrs1064793917
ebirs1064793917
HLIrs1064793917
Exacrs1064793917
Gnomadrs1064793917
Varsomers1064793917
LitVarrs1064793917
Maprs1064793917
PheGenIrs1064793917
Biobankrs1064793917
1000 genomesrs1064793917
hgdprs1064793917
ensemblrs1064793917
geneviewrs1064793917
scholarrs1064793917
googlers1064793917
pharmgkbrs1064793917
gwascentralrs1064793917
openSNPrs1064793917
23andMers1064793917
SNPshotrs1064793917
SNPdbers1064793917
MSV3drs1064793917
GWAS Ctlgrs1064793917
Max Magnitude4.1

NM_000062.2(SERPING1):c.1169_1175delAGTTCCA (p.Lys390Serfs)

ClinVar
Risk rs1064793917(-;-)
Alt rs1064793917(-;-)
Reference Rs1064793917(TCCAAGT;TCCAAGT)
Significance Pathogenic
Disease not provided
Variation info
Gene SERPING1
CLNDBN not provided
Reversed 0
HGVS NC_000011.9:g.57379329_57379335delAGTTCCA
CLNSRC
CLNACC RCV000482881.1,